G25D (p.Gly25Asp) variant of HBD (Hemoglobin subunit delta)
G25D (p.Gly25Asp) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) VICTORIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs34460332
- ClinGen CA124661
- cosmic curated COSV10462
- ClinVar RCV000016203
- other
- HEMOGLOBIN A(2) VICTORIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.06
- CADD 25.70
- ClinVar: other (HEMOGLOBIN A(2) VICTORIA)
- EBI: Benign (in Victoria)
- UniProt: Benign (in Victoria)
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: HbA2 Victoria delta 24 (B6) Gly----Asp. A new delta chain variant occurring with beta-thalassemia. (PMID 6469695)